rs193922362
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922362(C;T) |
| Make rs193922362(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 17837148 |
| Gene | JAK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922362 |
| dbSNP (classic) | rs193922362 |
| ClinGen | rs193922362 |
| ebi | rs193922362 |
| HLI | rs193922362 |
| Exac | rs193922362 |
| Gnomad | rs193922362 |
| Varsome | rs193922362 |
| LitVar | rs193922362 |
| Map | rs193922362 |
| PheGenI | rs193922362 |
| Biobank | rs193922362 |
| 1000 genomes | rs193922362 |
| hgdp | rs193922362 |
| ensembl | rs193922362 |
| geneview | rs193922362 |
| scholar | rs193922362 |
| rs193922362 | |
| pharmgkb | rs193922362 |
| gwascentral | rs193922362 |
| openSNP | rs193922362 |
| 23andMe | rs193922362 |
| SNPshot | rs193922362 |
| SNPdbe | rs193922362 |
| MSV3d | rs193922362 |
| GWAS Ctlg | rs193922362 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922362(T;T) |
| Alt | rs193922362(T;T) |
| Reference | Rs193922362(C;C) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency disease not provided |
| Variation | info |
| Gene | JAK3 |
| CLNDBN | Severe combined immunodeficiency disease not provided |
| Reversed | 1 |
| HGVS | NC_000019.9:g.17947957G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000030088.1, RCV000256129.1, |
[PMID 109001] Nonenteric gram negatives, 1976.
[PMID 9354668] Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
[PMID 10982185] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
[PMID 11668610] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
[PMID 14615376] Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
[PMID 17433830] A novel mutation of intron 22 in Janus kinase 3-deficient severe combined immunodeficiency.
